Abstract:
BACKGROUND:Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is a disorder diagnosed with low frequency, that produces a very prolonged and recurrent fever with other symptoms and analytical markers of inflammation. Its origin seems to be hereditary with a recessive autosomic pattern, but its pathogenic mechanisms are unclear. The aim of this study is to analyse the clinical characteristics and serum levels of immunoglobulins a Spanish family with HIDS. METHODS:We describe a young woman diagnosed with HIDS and investigate the other memberships of her family (parents and 5 brothers) by clinical interview, physical examination, hematological and biochemical analyses and measurements of IgG, IgA, IgM, IgE, IgD and the kappa/lambda ratio of light chains. Moreover, we also determine the IgD in a control group of 35 healthy blood donors. RESULTS:One male brother of the index case also showed a clinical picture of HIDS. The serum IgD levels were increased (above 100 U/ml) in both and in other two sisters without symptoms and were normal in the rest of the family. With only one exception, all individuals of the control group showed a normal IgD level and this was not associated with sex or age. The other immunoglobulins were normal in the family. In spite of the different treatments tested in the index case, only glucocorticoids aborted her fever attacks. CONCLUSIONS:In HIDS the clinical picture and the high IgD levels are both transmitted with a recessive autosomic pattern, but these are not necessarily associated in the same memberships of the family. Its diagnosis is difficult and there is not effective and long-term safe treatment.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
García-Díaz JD,Alvarez-Blanco MJdoi
10.1016/s0025-7753(00)71331-5keywords:
subject
Has Abstractpub_date
2000-04-01 00:00:00pages
456-9issue
12eissn
0025-7753issn
1578-8989pii
S0025-7753(00)71331-5journal_volume
114pub_type
杂志文章相关文献
MEDICINA CLINICA文献大全abstract::The authors present a study of 50 patients with adenocarcinomas of the colon and rectum, patients with gastric adenocarcinomas, and 30 healthy individuals as a control group. In all subjects the following parameters were determined: total number of lymphocytes in the peripheral blood, T lymphocytes, T-active lymphocyt...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1979-12-15 00:00:00
abstract:BACKGROUND:Few reports have analysed the transmission of tuberculosis in rural areas with a low incidence of disease. PATIENTS AND METHOD:A population-based molecular epidemiological study of patients with tuberculosis, diagnosed by culture, was conducted in Segovia (Spain) between 1995 and 1999. Clinical, demographic...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/s0025-7753(02)72484-6
更新日期:2002-05-11 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Growth hormone binding protein (GHBP), insuline-like growth factor 1 (IGF-1) and insuline-like growth factor binding protein 3 (IGFBP-3) serum concentrations were studied in familial short-statured patients (FSS) and age-matched normal-statured subjects. The aim of the study was to ascertain wh...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1157/13067086
更新日期:2004-10-09 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Information about the prevalence of chronic kidney disease (CKD) in the population treated in primary care is scarce. The aim of this study was to assess the prevalence of CKD in Spanish hypertensive women aged 64 years or older, and to determine possible associated factors. PATIENTS AND METH...
journal_title:Medicina clinica
pub_type: 杂志文章,多中心研究
doi:10.1016/j.medcli.2011.03.038
更新日期:2012-05-05 00:00:00
abstract::The coexistence of organ-specific and nonorgan-specific autoimmune diseases is an interesting phenomenon. A 52-year-old woman was admitted with fever, general discomfort, polyarthritis, and Raynaud's phenomenon. Physical examination revealed a goiter of stony consistency, hardening, paleness, and atrophy of the skin o...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1979-11-10 00:00:00
abstract::Vitamin K antagonists were the only choice for chronic oral anticoagulation for more than half a century. Over the past few years, direct oral anticoagulants have emerged, including one direct thrombin inhibitor (dabigatran etexilate) and three factor Xa inhibitors (apixaban, edoxaban and rivaroxaban). In randomised c...
journal_title:Medicina clinica
pub_type: 杂志文章,评审
doi:10.1016/j.medcli.2017.11.042
更新日期:2018-09-14 00:00:00
abstract:BACKGROUND:The aim of the present was to determine the levels of the tumor necrosis factor (TNF)-alpha in patients with HIV infection to study the relationship with the concentration of triglycerides (TG), CD4 lymphocyte count and clinical diagnosis. METHODS:Seventy-eight HIV-infected patients (58 males, 20 females); ...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1995-03-18 00:00:00
abstract:INTRODUCTION:Recently diagnosis of latent tuberculosis infection (LTBI) can be made using the tuberculin skin test (TST) or by techniques known as interferon-γ release assays (IGRAS), being QuantiFERON(®)-TB Gold In-Tube (QF-G-IT) the most used. The IGRAS avoid some drawbacks of the TST, especially cross-reaction with ...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/j.medcli.2014.11.027
更新日期:2015-11-20 00:00:00
abstract::The presence of antibodies (Abs) against hepatitis C virus (HCV) was analyzed in 26 haemophiliac patients; a prevalence of 38% was found in the total series and 56% in the treated patients. There were no cases with a positive serology among the three patients who had only received pasteurized factor. The frequency of ...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1991-01-26 00:00:00
abstract:BACKGROUND:To establish the early risk of multiple sclerosis (MS) following isolated demyelinating syndromes. PATIENTS AND METHOD:36 patients with optic neuritis, 24 with brainstem syndromes, 27 with spinal cord syndromes and 8 patients with a poliregional syndrome were included in a prospective protocol: including cl...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1999-05-22 00:00:00
abstract:BACKGROUND AND OBJECTIVE:We aimed to test a new telerehabilitation device for stress urinary incontinence (SUI) in order to make an initial assessment of its effectiveness. PATIENTS AND METHOD:Randomized, controlled pilot study. INTERVENTION:experimental group (10 patients): pelvic floor muscle training, device train...
journal_title:Medicina clinica
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.medcli.2014.05.036
更新日期:2015-05-21 00:00:00
abstract:BACKGROUND:Upon the detection of an excess number of cases of parotiditis in La Almolda (Zaragoza) a descriptive study of the epidemic was carried out with vaccination efficacy being quantified. METHODS:The definition and system of detection of the cases was established. To calculate the rate of infection the availabl...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1992-09-19 00:00:00
abstract:BACKGROUND:The aim of this study was the assessment of the scientific production and impact on academic and/or hospital promotion ob sabbatical leaves of medical staff from a University hospital. POPULATION AND METHODS:A matched case-control design was used. The Mantel-Haenszel odds ratio (ORMH) and its 95% confidence...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1998-10-03 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The aim of this cross-sectional study was to compare the prevalence of target organ damage (TOD) and established cardiovascular disease (CVD) in a cohort of nondiabetic hypertensive patients with 3 or more cardiovascular risk factors (CVRF) against a group of hypertensives with type 2 diabetes....
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/j.medcli.2012.05.032
更新日期:2013-10-05 00:00:00
abstract::A group of 39 patients has been divided in three categories according to their plasmatic renine activity and the correlation of the hipotensive answer to the Timolol Maleate (betadrenergic blocking). The control is more favourable in the normorreninemic than in the hiporreninemic patients and, paradoxically, even more...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1980-09-10 00:00:00
abstract:BACKGROUND:Clinical observation ratifies the existence of commonly accepted erroneous beliefs (EB) in relation to sexuality. In the health care sector, reinforcing factors of these beliefs are the professionals who are not specifically trained to manage, or detect the same in addition to the variability of the criteria...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1995-11-25 00:00:00
abstract::Twenty-six episodes of Pseudomonas aeruginosa bacteremia treated with intravenous ceftazidime, 4-6 g/day were evaluated. Treatment was begun within the first 24 hours after the isolation of the microorganism and was maintained for 10-12 days. In two patients with neutropenia amikacin was added during the initial 48-72...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1989-09-16 00:00:00
abstract:BACKGROUND:The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia. PATIENTS AND METHODS:Twenty eight achondroplastic p...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1998-04-18 00:00:00
abstract:BACKGROUND:We describe the characteristics of people with a recent diagnosis of HIV infection. PATIENTS AND METHOD:Series of 126 new cases of HIV infection diagnosed in an infectious diseases Service. RESULTS:Sexual transmission was the commonest form of infection (74%). Fifteen percent of individuals were aged over ...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/s0025-7753(01)72211-7
更新日期:2001-11-24 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The aim of this study was to investigate the presence of the most prevalent mutation in the SLC7A9 gene in families of the Mediterranean Spanish population and their association with clinical phenotypes. PATIENTS AND METHOD:Twenty cystinuria families were studied (6 type I, 12 non type I, and ...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1157/13090704
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:A different epidemiologic pattern of the neoplasms associated to the human immunodeficiency virus (HIV) has been described in the Mediterranean area. The aim of the present study was to analyze the epidemiologic, clinical and evolutive characteristics of these patients. METHODS:A retrospective study of 74 n...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1993-05-15 00:00:00
abstract::The health information system in Catalonia has experienced an important evolution but obtaining integrated data to evaluate the health services is still difficult. At the end of 2008 the basis of the information system of the "Center of Results" and a first set of indicators has been approved by the health system stak...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/S0025-7753(10)70006-3
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The correct management of patients with chronic renal disease depends on an early diagnosis. The aim of this study was to evaluate the usefulness, in the daily clinical practice, of the weight/creatinine formula as an indirect measurement of glomerular filtration. PATIENTS AND METHOD:1,025 amb...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/s0025-7753(03)73751-8
更新日期:2003-04-12 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The association of an exaggerated systolic blood pressure increase with exercise (EBPIE) with cardiovascular events remains controversial. Our aim was to determine the possible association of an EBPIE with survival and risk of serious cardiac events in patients with hypertension and known or su...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/j.medcli.2016.09.016
更新日期:2017-01-20 00:00:00
abstract::Renal complications in Waldenström's macroglobulinemia (WM) are infrequent and are characterized by the presence of PAS positive amorphous hyaline deposits in the capillary lumen, infiltrated with lymphoplasmatic cells with PAS positive inclusions in the interstices and intratubular hyaline cylinders. Membranous glome...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1991-10-26 00:00:00
abstract:UNLABELLED:BACKGROUND AND OJECTIVE: Tobacco attributable mortality offers a complementary view to smoking prevalence, giving an estimate of its impact at population level. The purpose of this study is to measure the impact, using mortality figures, of tobacco consumption in the Galician population over 34 years from 19...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:10.1016/j.medcli.2010.10.009
更新日期:2011-09-10 00:00:00
abstract:BACKGROUND:Acarbose is a reversible inhibitor of the intestinal alpha-glucosidases, the oral administration of which delays or diminishes the postprandial increase of glucose and insulin. METHODS:A multicentric double-blind clinical trial (11 centers), controlled versus placebo, crossed and randomized, was carried out...
journal_title:Medicina clinica
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:1993-04-03 00:00:00
abstract:BACKGROUND:The aim of the present was to study the prevalence of infection and tuberculous disease as well as the fulfillment of secondary antituberculin chemoprophylaxis in immigrants according to their geographic origin. PATIENTS AND METHODS:A descriptive study was carried out of 1,489 immigrants under the age of 35...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1996-04-13 00:00:00
abstract::Pharmacogenetics studies the relationship between genetic polymorphisms and individual responses to drugs. In recent years, there has been a great progress in our knowledge of the effects of drug-metabolizing enzymes and molecular target genetic polymorfisms on cancer chemotherapy. Pharmacogenetics focuses on the pred...
journal_title:Medicina clinica
pub_type: 杂志文章,评审
doi:10.1157/13124283
更新日期:2008-07-05 00:00:00
abstract::The serum levels of cholesterol bound to high density lipoproteins (HDL-C) were determined by the heparin-manganese chloride precipitation method in 306 subjects, 182 male with ages ranging from 11 to 81 years, and 124 female with ages ranging from 7 to 78 years. Twenty six subjects belonged to a lacto-vegetarian comm...
journal_title:Medicina clinica
pub_type: 杂志文章
doi:
更新日期:1981-03-25 00:00:00